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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:blood platelet disease
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Accession:DOID:2218 term browser browse the term
Definition:A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction. (DO)
Synonyms:exact_synonym: blood platelet disorder;   blood platelet disorders;   platelet disorder;   thrombocytopathies;   thrombocytopathy
 narrow_synonym: Thrombopathia
 primary_id: MESH:D001791
 alt_id: OMIA:001003
 xref: NCI:C131634;   OMIM:PS231200
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
blood platelet disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD26 ankyrin repeat domain containing 26 ISO ClinVar Annotator: match by term: Platelet disorder ClinVar PMID:23677566 PMID:25741868 PMID:28492532 PMID:28669401 PMID:31064749 More... NCBI chr 2:6,230,466...6,402,360 JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO ClinVar Annotator: match by term: Platelet disorder ClinVar PMID:7533783 PMID:7686693 PMID:10946357 PMID:11019968 PMID:11718687 More... NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639 		JBrowse link
G FERMT3 FERM domain containing kindlin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18278053 NCBI chr18:52,833,954...52,851,775
Ensembl chr18:52,834,001...52,851,667 		JBrowse link
G GP6 glycoprotein VI platelet ISO Sticky platelet syndrome type II;DNA:SNPs:introns: (rs1671153, rs1654419) (human)
Sticky platelet syndrome associated with Spontaneous Abortion;DNA:SNP:exon:g.55526345G>T (rs1671152) (human)
Sticky platelet syndrome associated with Spontaneous Abortion;DNA:SNPs:introns, exon:g.55527189T>G, g.55535881G>A, g.55536595A>G (rs1671153, rs1654419, rs1613662) (human)
Sticky platelet syndrome associated with Spontaneous Abortion;DNA:missense mutations:CDS:p.H322N, p.A249T, p.E237K (rs1671152, rs2304167, rs1654416) (human)
Sticky platelet syndrome type I associated with cerebral infarction;DNA:SNPs, haplotype:multiple (human)		 RGD PMID:22821001 PMID:22901851 PMID:23168074 PMID:26308704 PMID:28041267 RGD:11537847 RGD:401794137 RGD:401794413 RGD:401794417 RGD:401794455 NCBI chr 1:102,586,229...102,612,067
Ensembl chr 1:102,585,544...102,613,905 		JBrowse link
G PLA2G4A phospholipase A2 group IVA ISO CTD Direct Evidence: marker/mechanism CTD PMID:18451993 NCBI chr 7:19,804,412...19,955,215
Ensembl chr 7:19,832,664...19,966,936 		JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Platelet disorder ClinVar PMID:10508512 PMID:11049997 PMID:11830488 PMID:12002768 PMID:22012064 More... NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839 		JBrowse link
G STXBP2 syntaxin binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30696774 NCBI chr20:52,413,174...52,421,525
Ensembl chr20:52,413,191...52,421,517 		JBrowse link
G TBXA2R thromboxane A2 receptor ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.R60L(human)		 CTD
RGD		 PMID:7929844 PMID:19828703 RGD:1578439 NCBI chr20:55,819,866...55,829,395
Ensembl chr20:55,824,410...55,828,980 		JBrowse link
atypical hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:1787257 PMID:12753286 PMID:17187257 PMID:17627784 PMID:19847791 More... NCBI chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295 		JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar PMID:17182750 PMID:20301541 NCBI chr11:58,102,057...58,116,750
Ensembl chr11:58,102,592...58,109,389 		JBrowse link
G C1GALT1C1 C1GALT1 specific chaperone 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:36599939 NCBI chr  X:92,581,124...92,584,701
Ensembl chr  X:92,581,488...92,582,444 		JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9616367 More... NCBI chr12:1,363,656...1,399,732
Ensembl chr12:1,363,803...1,399,728 		JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1		 ClinVar
OMIM		 PMID:1976733 PMID:9536098 PMID:12462331 PMID:14639503 PMID:17576681 More... NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761 		JBrowse link
G C3AR1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar NCBI chr27:37,431,745...37,439,858
Ensembl chr27:37,433,792...37,435,246 		JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25439097 PMID:25741868 PMID:28224992 PMID:28492532 PMID:29482223 More... NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429 		JBrowse link
G CFB complement factor B ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome		 ClinVar
OMIM		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 More... NCBI chr12:1,400,143...1,406,267 JBrowse link
G CFH complement factor H susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1		 ClinVar
OMIM		 PMID:646435 PMID:8072530 PMID:9536098 PMID:9551389 PMID:9811382 More... NCBI chr38:2,878,677...2,956,226 JBrowse link
G CFHR5 complement factor H related 5 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:16299065 PMID:17000000 PMID:19365580 PMID:24033266 PMID:25741868 More... NCBI chr 7:5,723,819...5,752,881
Ensembl chr 7:5,724,129...5,752,816 		JBrowse link
G CFI complement factor I ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome		 ClinVar
OMIM		 PMID:849647 PMID:8613545 PMID:9536098 PMID:15173250 PMID:15917334 More... NCBI chr32:29,936,447...29,986,755
Ensembl chr32:29,936,393...29,985,724 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:11134255 PMID:12028435 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 PMID:12028435 More... NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 More... NCBI chr  X:81,982,119...82,248,428
Ensembl chr  X:81,982,275...82,247,679 		JBrowse link
G DGKE diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7 ClinVar PMID:23274426 PMID:23542698 PMID:24511134 PMID:24747643 PMID:25135762 More... NCBI chr 9:31,666,727...31,690,878
Ensembl chr 9:31,667,101...31,685,464 		JBrowse link
G LAMB2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:40,036,967...40,062,628
Ensembl chr20:40,050,157...40,062,523 		JBrowse link
G LOC609365 CD46 molecule, complement regulatory protein-like susceptibility
severity		 ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
DNA:mutations:cds:multiple (human)		 OMIM
ClinVar
RGD		 PMID:270646 PMID:2431077 PMID:3480783 PMID:9536098 PMID:9551389 More... RGD:11038684 NCBI chr 7:6,602,762...6,646,561 JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:893142 PMID:1726094 PMID:7558877 PMID:25741868 NCBI chr21:28,187,535...28,188,991 JBrowse link
G MMACHC metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome		 ClinVar PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 More... NCBI chr15:14,857,236...14,863,211
Ensembl chr15:14,857,231...14,863,113 		JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059 		JBrowse link
G NPHP3 nephrocystin 3 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:26184788 PMID:28492532 NCBI chr23:29,662,486...29,703,629
Ensembl chr23:29,645,641...29,703,805 		JBrowse link
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:59,819,236...59,936,220
Ensembl chr 5:59,814,274...59,929,386 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:9915943 PMID:11317351 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:116,794,891...116,814,418
Ensembl chr 1:116,794,433...116,813,546 		JBrowse link
G PLA2R1 phospholipase A2 receptor 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 NCBI chr36:5,696,733...5,793,599
Ensembl chr36:5,698,429...5,794,204 		JBrowse link
G PLG plasminogen ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:49,497,229...49,535,260
Ensembl chr 1:49,497,229...49,535,260 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:28492532 PMID:28844315 NCBI chr37:23,364,941...23,425,206
Ensembl chr37:23,367,220...23,419,248 		JBrowse link
G THBD thrombomodulin no_association
severity		 ISO DNA:SNPs:5' utr, 3' utr:multiple
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome		 RGD
OMIM
ClinVar		 PMID:7811989 PMID:9157575 PMID:9198186 PMID:9236408 PMID:10102456 More... RGD:11038684 RGD:11038691 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649 		JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:19380626 PMID:25741868 NCBI chr 5:29,897,378...30,007,885
Ensembl chr 5:29,897,210...30,007,723 		JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 More... NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000 		JBrowse link
autoimmune thrombocytopenic purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19260037 NCBI chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295 		JBrowse link
G ALB albumin ISO RGD PMID:6683982 RGD:11036083 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709 		JBrowse link
G B9D2 B9 domain containing 2 disease_progression ISO mRNA:increased expression: :
protein:decreased expression:plasma:		 RGD PMID:11886393 PMID:24763013 PMID:24801815 RGD:11073598 RGD:11073600 RGD:11073603 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G CD40 CD40 molecule ISO protein:increased expression:peripheral blood, B lymphocyte (human) RGD PMID:17654056 RGD:11344977 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301 		JBrowse link
G CD40LG CD40 ligand treatment ISO protein:decreased expression:serum (mouse)
protein:increased expression:peripheral blood, T lymphocyte (human)		 RGD PMID:16188945 PMID:17654056 PMID:18341638 PMID:22537155 RGD:11344977 RGD:11344980 RGD:11352237 RGD:11352267 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006 		JBrowse link
G CD86 CD86 molecule treatment ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:19379594 PMID:20581660 RGD:11354966 RGD:11520785 NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 treatment ISO DNA:polymorphisms:cds:HLA-DQB1*0401 (human) RGD PMID:10435723 RGD:11041758 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO mRNA:decreased expression:mononuclear cell RGD PMID:18683034 RGD:9588662 NCBI chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta susceptibility ISO DNA:SNP:promoter: -579G>T(human)
mRNA:decreased expression:mononuclear cell		 RGD PMID:18683034 PMID:23000068 RGD:9588662 RGD:9589094 NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900 		JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:serum: RGD PMID:10776692 RGD:11049162 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321 		JBrowse link
G FCGR2B Fc fragment of IgG receptor IIb treatment
disease_progression		 ISO DNA:SNP: :p.I232T (human) RGD PMID:15566359 PMID:19549396 PMID:21045192 PMID:21131591 PMID:22257295 RGD:11040933 RGD:11344927 RGD:11344928 RGD:11344931 RGD:11344955 NCBI chr38:20,980,777...20,994,403 JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha ISO RGD PMID:16861348 RGD:10450841 NCBI chr 5:31,681,605...31,683,261 JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain treatment ISO DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human) RGD PMID:10435723 RGD:11041758 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IL10 interleukin 10 disease_progression ISO DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human)
DNA:SNP:promoter:-627C>A (human)		 RGD PMID:22677268 PMID:25051072 RGD:11041894 RGD:11046267 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:plasma: RGD PMID:24801815 RGD:11073600 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348 		JBrowse link
G IL1A interleukin 1 alpha ISO DNA:SNP:promoter:-899C>T (human) RGD PMID:21591983 RGD:11051966 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435 		JBrowse link
G IL1RN interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:: RGD PMID:20626741 RGD:11528541 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329 		JBrowse link
G IL2 interleukin 2 susceptibility ISO DNA:polymorphism::-330T>G(human) RGD PMID:20626741 RGD:11528541 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394 		JBrowse link
G IL4 interleukin 4 disease_progression ISO DNA:repeat:intron RGD PMID:25051072 RGD:11041894 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534 		JBrowse link
G ITGB3 integrin subunit beta 3 ISO RGD PMID:10936026 PMID:24258817 RGD:10755473 RGD:10755475 NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451 		JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III treatment
susceptibility		 ISO DNA:SNP:exon:p.F158V (rs396991) (human)
DNA:SNP:cds:p.V158F(human)		 RGD PMID:11380443 PMID:15479722 PMID:22123287 PMID:23484707 RGD:11040776 RGD:11040989 RGD:11344926 RGD:11352255 NCBI chr38:21,054,870...21,060,948 JBrowse link
G MIR130A microRNA mir-130a ISO RNA:decreased expression:PBMC RGD PMID:24801815 RGD:11073600 NCBI chr18:38,543,618...38,543,679
Ensembl chr18:38,543,618...38,543,681 		JBrowse link
G MIR409 microRNA mir-409 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 8:69,293,782...69,293,835 JBrowse link
G PLAT plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:2129164 RGD:11541072 NCBI chr16:23,469,590...23,496,013 JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association ISO DNA:snp:cds:c.1858C>T (rs2476601) (human)
DNA: snp: cds: C1858T		 RGD PMID:21597364 PMID:27309885 RGD:11535019 RGD:6484673 NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Autoimmune thrombocytopenia | ClinVar Annotator: match by term: Autoimmune thrombocytopenic purpura ClinVar PMID:32853638 PMID:33087723 NCBI chr 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557 		JBrowse link
autosomal dominant macrothrombocytopenia TUBB1-related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB1 tubulin beta 1 class VI ISO ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 1, autosomal dominant | ClinVar Annotator: match by term: TUBB1-related condition OMIM
ClinVar		 PMID:4516618 PMID:18849486 PMID:24344610 PMID:24777453 PMID:25741868 More... NCBI chr24:43,759,078...43,768,556
Ensembl chr24:43,759,555...43,771,737 		JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration | ClinVar Annotator: match by term: MYH9-related condition OMIM
ClinVar		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More... NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953 		JBrowse link
Bernard-Soulier syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GP1BA glycoprotein Ib platelet subunit alpha treatment ISO ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency RGD
OMIM
ClinVar		 PMID:7579348 PMID:7855797 PMID:8950770 PMID:9233564 PMID:9326229 More... RGD:10450833 NCBI chr 5:31,681,605...31,683,261 JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta severity ISO ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome
DNA:missense mutation:exon:c.281A>G(p.D94G)(human)		 OMIM
ClinVar
RGD		 PMID:10887115 PMID:17109744 PMID:25741868 PMID:28131619 PMID:28492532 More... RGD:13464128 NCBI chr26:29,567,437...29,568,627
Ensembl chr26:29,528,366...29,568,522 		JBrowse link
G GP9 glycoprotein IX platelet severity ISO ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency
DNA:missense mutation:cds:c.182A>G(p.N61S)(human)		 OMIM
ClinVar
RGD		 PMID:8049428 PMID:8481514 PMID:9163595 PMID:9432024 PMID:11167791 More... RGD:13464128 NCBI chr20:3,027,790...3,029,496 JBrowse link
G VWF von Willebrand factor ISO RGD PMID:14717981 RGD:1580643 NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142 		JBrowse link
Bernard-Soulier Syndrome Type A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GP1BA glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A1 ClinVar PMID:1694864 PMID:1901273 PMID:2308962 PMID:7690774 PMID:7855797 More... NCBI chr 5:31,681,605...31,683,261 JBrowse link
Bernard-Soulier syndrome type A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GP1BA glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A2, autosomal dominant OMIM
ClinVar		 PMID:1694864 PMID:1730088 PMID:7579348 PMID:7690774 PMID:7855797 More... NCBI chr 5:31,681,605...31,683,261 JBrowse link
Bernard-Soulier Syndrome, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GP1BA glycoprotein Ib platelet subunit alpha ISO DNA:missense mutation: :p.N41H (169A>C) (human)
DNA:missense mutation: :p.A156V (515C>T) (human)		 RGD PMID:11222377 PMID:18815197 RGD:10450832 RGD:10450842 NCBI chr 5:31,681,605...31,683,261 JBrowse link
Bernard-Soulier Syndrome, Type B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GP1BB glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type ClinVar PMID:7633430 PMID:8703016 PMID:9116284 PMID:10887115 PMID:18414213 More... NCBI chr26:29,567,437...29,568,627
Ensembl chr26:29,528,366...29,568,522 		JBrowse link
Bernard-Soulier Syndrome, Type C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GP9 glycoprotein IX platelet ISO ClinVar Annotator: match by term: Bernard-Soulier syndrome type C ClinVar PMID:8049428 PMID:8481514 PMID:9163595 PMID:9432024 PMID:9886312 More... NCBI chr20:3,027,790...3,029,496 JBrowse link
Braddock-Carey Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF15 kinesin family member 15 ISO ClinVar Annotator: match by term: Braddock-carey syndrome 2 OMIM
ClinVar		 PMID:28150392 NCBI chr20:43,454,025...43,532,361
Ensembl chr20:43,359,206...43,532,219 		JBrowse link
congenital amegakaryocytic thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPL MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia ClinVar PMID:971406 PMID:8073287 PMID:9536098 PMID:10077649 PMID:10971406 More... NCBI chr15:16,815,102...16,825,321
Ensembl chr15:16,815,294...16,825,350 		JBrowse link
Congenital Amegakaryocytic Thrombocytopenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPL MPL proto-oncogene, thrombopoietin receptor ISO OMIM NCBI chr15:16,815,102...16,825,321
Ensembl chr15:16,815,294...16,825,350 		JBrowse link
Congenital Amegakaryocytic Thrombocytopenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THPO thrombopoietin ISO ClinVar Annotator: match by term: Amegakaryocytic thrombocytopenia, congenital, 2 OMIM
ClinVar		 PMID:24085763 PMID:25741868 PMID:28492532 PMID:28559357 PMID:29191945 More... NCBI chr34:17,245,006...17,255,250
Ensembl chr34:17,247,731...17,253,033 		JBrowse link
congenital disorder of glycosylation Ix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STT3B STT3 oligosaccharyltransferase complex catalytic subunit B ISO ClinVar Annotator: match by term: CDG Ix | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23842455 PMID:25741868 PMID:28492532 More... NCBI chr23:13,036,301...13,143,629
Ensembl chr23:13,037,722...13,143,743 		JBrowse link
Diarrhea prodrome + Hemolytic-Uremic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GP1BA glycoprotein Ib platelet subunit alpha ISO associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human) RGD PMID:29216383 RGD:42722620 NCBI chr 5:31,681,605...31,683,261 JBrowse link
Drug-Induced Immune Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC2 ATP binding cassette subfamily C member 2 susceptibility ISO associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human) RGD PMID:20943283 RGD:11080978 NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase treatment ISO associated with Stomach Neoplasms
associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human)		 RGD PMID:19473056 PMID:23064955 RGD:11098817 RGD:11251740 NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923 		JBrowse link
G IL1A interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung
associated with Ovarian Neoplasms		 RGD PMID:7666093 PMID:8151314 RGD:11051963 RGD:11051964 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435 		JBrowse link
G IL1B interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 severity ISO RGD PMID:10942385 PMID:17234740 RGD:11541093 RGD:11541120 NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778 		JBrowse link
essential thrombocythemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATG2B autophagy related 2B ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 8:65,039,960...65,110,811
Ensembl chr 8:65,044,194...65,110,796 		JBrowse link
G B9D2 B9 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G BDKRB1 bradykinin receptor B1 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 8:65,017,655...65,028,899 JBrowse link
G BDKRB2 bradykinin receptor B2 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 8:64,974,588...65,005,682
Ensembl chr 8:64,974,997...65,003,407 		JBrowse link
G C8H14orf132 chromosome 8 C14orf132 homolog ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 8:64,813,713...64,861,449
Ensembl chr 8:64,813,303...64,855,348 		JBrowse link
G CALR calreticulin severity ISO ClinVar Annotator: match by term: Thrombocythemia 1
DNA:mutations:multiple (human)		 OMIM
ClinVar
RGD		 PMID:24325356 PMID:24325359 PMID:24496303 PMID:25741868 RGD:11352751 NCBI chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639 		JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:22196954 RGD:11344979 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006 		JBrowse link
G CUX2 cut like homeobox 2 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar PMID:20404132 PMID:25741868 NCBI chr26:8,711,816...8,997,263
Ensembl chr26:8,730,435...8,993,205 		JBrowse link
G ELANE elastase, neutrophil expressed ISO protein:increased expression:plasma: RGD PMID:18768782 RGD:10450556 NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151 		JBrowse link
G GSKIP GSK3B interacting protein ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 8:65,110,659...65,131,205
Ensembl chr 8:65,111,414...65,129,622 		JBrowse link
G JAK2 Janus kinase 2 severity ISO DNA:mutation: :p.V617F (human)
OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521
CTD Direct Evidence: marker/mechanism		 RGD
MouseDO
CTD		 PMID:15781101 PMID:15858187 PMID:16484586 PMID:16896569 PMID:19154659 More... RGD:10449178 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:14764528 More... NCBI chr15:16,815,102...16,825,321
Ensembl chr15:16,815,294...16,825,350 		JBrowse link
G MYB MYB proto-oncogene, transcription factor ISO OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 MouseDO NCBI chr 1:27,908,309...27,991,984
Ensembl chr 1:27,908,364...27,991,969 		JBrowse link
G PDGFA platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 6:16,271,082...16,293,246
Ensembl chr 6:16,270,104...16,292,396 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746 		JBrowse link
G SH2B3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Idiopathic thrombocythemia | ClinVar Annotator: match by term: THROMBOCYTOSIS 1 | ClinVar Annotator: match by term: Thrombocythemia 1 OMIM
ClinVar		 PMID:15705783 PMID:20404132 PMID:23812944 PMID:25741868 PMID:27651169 More... NCBI chr26:9,033,851...9,073,095
Ensembl chr26:9,005,281...9,070,204 		JBrowse link
G TCL1A TCL1 family AKT coactivator A ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar
G THPO thrombopoietin ISO ClinVar Annotator: match by term: Thrombocythemia 1 OMIM
ClinVar		 PMID:7772529 PMID:9425899 PMID:9694695 PMID:10583217 PMID:16199547 More... NCBI chr34:17,245,006...17,255,250
Ensembl chr34:17,247,731...17,253,033 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:serum: RGD PMID:24434346 RGD:11354980 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933 		JBrowse link
G VWF von Willebrand factor ISO RGD PMID:25876231 RGD:11073823 NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142 		JBrowse link
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIVM basic, immunoglobulin-like variable motif containing ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr22:52,296,126...52,335,744 JBrowse link
G CCDC168 coiled-coil domain containing 168 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr22:52,228,429...52,257,920 JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr22:52,339,011...52,372,618 JBrowse link
G FGF14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr22:51,379,799...51,983,662
Ensembl chr22:51,380,788...51,982,849 		JBrowse link
G METTL21C methyltransferase 21C, AARS1 lysine ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr22:52,181,222...52,194,859
Ensembl chr22:52,182,115...52,190,163 		JBrowse link
G POGLUT2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr22:52,274,616...52,295,981
Ensembl chr22:52,146,466...52,372,304 		JBrowse link
G SLC10A2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr22:52,523,679...52,541,976
Ensembl chr22:52,523,568...52,541,976 		JBrowse link
G TEX30 testis expressed 30 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr22:52,260,841...52,267,711
Ensembl chr22:52,260,841...52,267,664 		JBrowse link
G TPP2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25414442 PMID:25640679 More... NCBI chr22:52,105,821...52,176,213
Ensembl chr22:52,105,886...52,175,426 		JBrowse link
Familial Platelet Disorder with Associated Myeloid Malignancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLIC6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:18723428 PMID:24100448 PMID:28492532 PMID:32581362 NCBI chr31:30,003,448...30,102,939
Ensembl chr31:30,091,335...30,100,842 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:32581362 NCBI chr31:29,858,428...29,868,315 JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:18478040 PMID:18487507 PMID:19357396 PMID:19679353 PMID:21626672 More... NCBI chr31:29,777,154...29,777,839
Ensembl chr31:29,581,658...29,777,525 		JBrowse link
G LOC610164 carbonyl reductase [NADPH] 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:25741868 PMID:34355501 NCBI chr31:31,316,573...31,321,413 JBrowse link
G MIR802 microRNA mir-802 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:25741868 PMID:34355501 NCBI chr31:31,005,200...31,005,289
Ensembl chr31:31,005,200...31,005,289 		JBrowse link
G RCAN1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:32581362 NCBI chr31:29,908,046...30,002,412
Ensembl chr31:29,909,388...30,002,418 		JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy | ClinVar Annotator: match by term: Familial thrombocytopenia with propensity to acute myelogenous leukemia | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | ClinVar Annotator: match by term: Platelet disorder, Aspirin-like OMIM
ClinVar		 PMID:1958483 PMID:9536098 PMID:9606182 PMID:9837750 PMID:10068652 More... NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839 		JBrowse link
G SETD4 SET domain containing 4 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:25741868 PMID:34355501 NCBI chr31:31,283,623...31,309,527
Ensembl chr31:31,150,596...31,309,687 		JBrowse link
G SLC5A3 solute carrier family 5 member 3 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:32581362 NCBI chr31:28,610,332...28,635,233
Ensembl chr31:28,610,332...28,635,233 		JBrowse link
G SMIM11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:32581362 NCBI chr31:29,781,693...29,818,886 JBrowse link
Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLA2G4A phospholipase A2 group IVA ISO ClinVar Annotator: match by term: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS OMIM
ClinVar		 PMID:18451993 PMID:23268370 PMID:25102815 PMID:25741868 PMID:28492532 NCBI chr 7:19,804,412...19,955,215
Ensembl chr 7:19,832,664...19,966,936 		JBrowse link
Giant Platelet Syndrome with Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Giant platelet syndrome with thrombocytopenia ClinVar PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 More... NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953 		JBrowse link
Glanzmann Thrombasthenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITGA2B integrin subunit alpha 2b ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 OMIM
ClinVar		 PMID:1317725 PMID:1926040 PMID:2014236 PMID:7508443 PMID:7620188 More... NCBI chr 9:19,049,643...19,064,019
Ensembl chr 9:19,050,001...19,063,992 		JBrowse link
G ITGB3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 ClinVar PMID:1371279 PMID:1602006 PMID:9050889 PMID:9215749 PMID:9351872 More... NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451 		JBrowse link
Glanzmann Thrombasthenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITGB3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia 2 ClinVar
OMIM		 PMID:1371279 PMID:1438206 PMID:1602006 PMID:2014236 PMID:2392682 More... NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451 		JBrowse link
Glanzmann's thrombasthenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITGA2 integrin subunit alpha 2 severity ISO RGD PMID:14687991 RGD:1582297 NCBI chr 4:62,170,137...62,268,962
Ensembl chr 4:62,170,452...62,268,983 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP
ISO		 Thrombasthenia
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia | ClinVar Annotator: match by term: Glanzmann thrombasthenia type A | ClinVar Annotator: match by term: Thrombasthenia		 OMIA
ClinVar		 PMID:1317725 PMID:1638023 PMID:1926040 PMID:2014236 PMID:3715800 More... NCBI chr 9:19,049,643...19,064,019
Ensembl chr 9:19,050,001...19,063,992 		JBrowse link
G ITGB3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia | ClinVar Annotator: match by term: Glanzmann thrombasthenia type A | ClinVar Annotator: match by term: Thrombasthenia ClinVar PMID:1371279 PMID:1430225 PMID:1438206 PMID:1602006 PMID:2014236 More... NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451 		JBrowse link
gray platelet syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC12 coiled-coil domain containing 12 ISO ClinVar Annotator: match by term: Gray platelet syndrome ClinVar NCBI chr20:41,838,497...41,889,902
Ensembl chr20:41,834,095...41,890,482 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO DNA:nonsense mutation:c.859C>T, p.Gln287X(human) RGD PMID:24325358 RGD:11040508 NCBI chr 9:51,380,697...51,394,679
Ensembl chr 9:51,380,696...51,392,812 		JBrowse link
G NBEAL2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Gray platelet syndrome | ClinVar Annotator: match by term: NBEAL2-related condition OMIM
ClinVar		 PMID:21765411 PMID:21765412 PMID:21765413 PMID:25741868 PMID:28492532 More... NCBI chr20:41,806,903...41,836,286
Ensembl chr20:41,803,702...41,827,587 		JBrowse link
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1GALT1C1 C1GALT1 specific chaperone 1 ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature ClinVar
OMIM		 PMID:25741868 PMID:36599939 PMID:37216524 NCBI chr  X:92,581,124...92,584,701
Ensembl chr  X:92,581,488...92,582,444 		JBrowse link
hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:increased expression:plasma (rat) RGD PMID:10201001 RGD:11528527 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO RGD PMID:16197457 RGD:6893534 NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639 		JBrowse link
G CFH complement factor H ISO DNA:mutations, polymorphisms:promoter, exon:multiple RGD PMID:14583443 RGD:11041164 NCBI chr38:2,878,677...2,956,226 JBrowse link
G DGKE diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:25854283 NCBI chr 9:31,666,727...31,690,878
Ensembl chr 9:31,667,101...31,685,464 		JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12053072 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144 		JBrowse link
G F2 coagulation factor II, thrombin ISO associated with diarrhea;protein:increased expression:plasma (human) RGD PMID:9423793 RGD:40818428 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15632024 RGD:7242276 NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467 		JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 severity ISO associated with Escherichia Coli Infections; RGD PMID:30467800 RGD:39458200 NCBI chr10:40,658,191...40,732,097
Ensembl chr10:40,659,041...40,677,357 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:increased concentration:serum (human) RGD PMID:9802632 PMID:12373296 RGD:6909134 RGD:6909171 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G LOC480600 chemokine (C-C motif) ligand 3 ISO RGD PMID:17220320 RGD:7241820 NCBI chr 9:37,708,561...37,710,209
Ensembl chr 9:37,676,966...37,710,209 		JBrowse link
G LOC609365 CD46 molecule, complement regulatory protein-like susceptibility ISO DNA:frameshift mutation:cds:p.N233X3 (human)
DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human)
DNA:mutations:multiple (human)		 RGD PMID:14566051 PMID:14615110 PMID:16189652 RGD:11352767 RGD:11352770 RGD:11531138 NCBI chr 7:6,602,762...6,646,561 JBrowse link
G MBL1 mannose binding lectin 1 treatment ISO RGD PMID:27378476 RGD:11530050 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12588957 NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860 		JBrowse link
G PLA2G7 phospholipase A2 group VII severity ISO associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human) RGD PMID:10873870 RGD:7257516 NCBI chr12:14,866,229...14,908,230
Ensembl chr12:14,866,229...14,908,114 		JBrowse link
G PLAT plasminogen activator, tissue type ISO associated with Escherichia coli Infections;protein:increased expression:plasma (human) RGD PMID:11777999 RGD:11541069 NCBI chr16:23,469,590...23,496,013 JBrowse link
G THBD thrombomodulin ISO RGD PMID:22942429 RGD:11038690 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:34964109 NCBI chr20:6,031,295...6,090,938
Ensembl chr20:6,050,357...6,207,981 		JBrowse link
Heparin-induced Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL10 interleukin 10 no_association ISO DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human)
DNA:repeats, haplotype:promoter		 RGD PMID:22239992 RGD:11049164 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III susceptibility ISO DNA:SNP:cds:p.V158F(human) RGD PMID:15191947 RGD:11040991 NCBI chr38:21,054,870...21,060,948 JBrowse link
Hermansky-Pudlak syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:16507770 PMID:23403622 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 3:28,481,974...28,748,095
Ensembl chr 3:28,481,038...28,751,258 		JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar NCBI chr20:56,893,479...56,932,460
Ensembl chr20:56,893,535...56,931,830 		JBrowse link
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:25741868 PMID:31064749 NCBI chr 1:110,325,351...110,328,226
Ensembl chr 1:110,326,843...110,327,442 		JBrowse link
G BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4 ISO MouseDO NCBI chr 3:58,822,405...58,823,770
Ensembl chr 3:58,822,482...58,823,138 		JBrowse link
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:32565547 NCBI chr35:7,860,336...7,998,461
Ensembl chr35:7,955,923...7,998,505 		JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:10610180 PMID:21665000 PMID:22461475 PMID:25741868 PMID:26575419 More... NCBI chr30:11,861,119...11,949,451
Ensembl chr30:11,811,339...11,937,353 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, alveolar macrophage (human) RGD PMID:19729668 RGD:4891476 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852 		JBrowse link
G CP ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:11590544 PMID:16199547 PMID:18414213 PMID:24033266 PMID:25741868 More... NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 disease_progression ISO RGD PMID:25347450 RGD:11352293 NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740 		JBrowse link
G DTNBP1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:24033266 PMID:28492532 NCBI chr35:14,738,025...14,862,609
Ensembl chr35:14,738,029...14,864,169 		JBrowse link
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 More... NCBI chr28:11,547,457...11,572,248
Ensembl chr28:11,547,741...11,571,613 		JBrowse link
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:11590544 PMID:16199547 PMID:17933573 PMID:18414213 PMID:24033266 More... NCBI chr23:43,939,829...43,979,446
Ensembl chr23:43,939,824...43,988,555 		JBrowse link
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:12664304 PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532 More... NCBI chr26:20,131,658...20,157,532
Ensembl chr26:19,933,281...20,157,058 		JBrowse link
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:23607980 More... NCBI chr21:40,725,089...40,770,665
Ensembl chr21:40,726,274...40,770,112 		JBrowse link
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:12548288 PMID:17041891 PMID:19843503 PMID:24033266 PMID:25741868 More... NCBI chr28:14,614,434...14,617,138
Ensembl chr28:14,614,584...14,653,629 		JBrowse link
G KXD1 KxDL motif containing 1 ISO MouseDO NCBI chr20:44,480,634...44,489,287
Ensembl chr20:44,481,557...44,489,188 		JBrowse link
G RAB38 RAB38, member RAS oncogene family ISO RGD PMID:19897744 RGD:2324690 NCBI chr21:11,769,924...11,823,546
Ensembl chr21:11,769,351...11,822,815 		JBrowse link
G RABGGTA Rab geranylgeranyltransferase subunit alpha ISO MouseDO NCBI chr 8:4,244,731...4,250,836
Ensembl chr 8:4,244,781...4,250,744 		JBrowse link
G SLC7A11 solute carrier family 7 member 11 ISO MouseDO NCBI chr19:4,289,792...4,379,060
Ensembl chr19:4,289,850...4,389,048 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes ISO MouseDO NCBI chr26:7,090,669...7,119,913 JBrowse link
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:28,481,974...28,748,095
Ensembl chr 3:28,481,038...28,751,258 		JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO OMIM:203300 MouseDO NCBI chr20:56,893,479...56,932,460
Ensembl chr20:56,893,535...56,931,830 		JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 PMID:33543539 NCBI chr30:11,861,119...11,949,451
Ensembl chr30:11,811,339...11,937,353 		JBrowse link
G CP ceruloplasmin ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369 		JBrowse link
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: HPS1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 OMIM
ClinVar		 PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 More... NCBI chr28:11,547,457...11,572,248
Ensembl chr28:11,547,741...11,571,613 		JBrowse link
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:11590544 PMID:25741868 PMID:28492532 PMID:31898847 NCBI chr23:43,939,829...43,979,446
Ensembl chr23:43,939,824...43,988,555 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO OMIM:203300 MouseDO NCBI chr30:20,633,576...20,706,240
Ensembl chr30:20,635,400...20,690,521 		JBrowse link
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: AP3D1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26744459 PMID:28492532 More... NCBI chr20:56,893,479...56,932,460
Ensembl chr20:56,893,535...56,931,830 		JBrowse link
Hermansky-Pudlak Syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 11 OMIM
ClinVar		 PMID:25741868 PMID:32565547 NCBI chr35:7,860,336...7,998,461
Ensembl chr35:7,955,923...7,998,505 		JBrowse link
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGGF1 angiogenic factor with G-patch and FHA domains 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:29,578,050...29,682,265
Ensembl chr 3:29,647,592...29,682,776 		JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 OMIM
ClinVar		 PMID:8042664 PMID:9536098 PMID:10024875 PMID:11809908 PMID:14566336 More... NCBI chr 3:28,481,974...28,748,095
Ensembl chr 3:28,481,038...28,751,258 		JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:28492532 NCBI chr20:56,893,479...56,932,460
Ensembl chr20:56,893,535...56,931,830 		JBrowse link
G ARSB arylsulfatase B ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:27,870,111...28,034,906
Ensembl chr 3:27,870,151...28,034,906 		JBrowse link
G CRHBP corticotropin releasing hormone binding protein ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:29,726,316...29,737,748
Ensembl chr 3:29,705,031...29,758,111 		JBrowse link
G F2RL1 F2R like trypsin receptor 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:29,801,119...29,810,006
Ensembl chr 3:29,800,211...29,810,180 		JBrowse link
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:11590544 PMID:25741868 PMID:28492532 PMID:31898847 PMID:32581362 NCBI chr23:43,939,829...43,979,446
Ensembl chr23:43,939,824...43,988,555 		JBrowse link
G LHFPL2 LHFPL tetraspan subfamily member 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:28,255,389...28,279,510 JBrowse link
G OTP orthopedia homeobox ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:29,063,359...29,071,533
Ensembl chr 3:29,064,681...29,071,509 		JBrowse link
G PDE8B phosphodiesterase 8B ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:29,289,867...29,432,557
Ensembl chr 3:29,291,549...29,432,542 		JBrowse link
G S100Z S100 calcium binding protein Z ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:29,773,107...29,784,376 JBrowse link
G SCAMP1 secretory carrier membrane protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:28,296,229...28,417,398
Ensembl chr 3:28,274,205...28,417,496 		JBrowse link
G TBCA tubulin folding cofactor A ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:28,972,469...29,027,436
Ensembl chr 3:28,910,025...29,025,297 		JBrowse link
G WDR41 WD repeat domain 41 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:29,082,481...29,286,632
Ensembl chr 3:29,073,073...29,286,681 		JBrowse link
G ZBED3 zinc finger BED-type containing 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CP ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 ClinVar PMID:11590544 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369 		JBrowse link
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 OMIM
ClinVar		 PMID:9536098 PMID:11455388 PMID:11590544 PMID:16199547 PMID:17576681 More... NCBI chr23:43,939,829...43,979,446
Ensembl chr23:43,939,824...43,988,555 		JBrowse link
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome with pulmonary fibrosis ClinVar PMID:12442288 PMID:16185271 PMID:25741868 PMID:28492532 NCBI chr28:11,547,457...11,572,248
Ensembl chr28:11,547,741...11,571,613 		JBrowse link
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: HPS4-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4 OMIM
ClinVar		 PMID:11836498 PMID:12664304 PMID:15108212 PMID:16199547 PMID:20158590 More... NCBI chr26:20,131,658...20,157,532
Ensembl chr26:19,933,281...20,157,058 		JBrowse link
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: HPS5-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5 OMIM
ClinVar		 PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:22995991 More... NCBI chr21:40,725,089...40,770,665
Ensembl chr21:40,726,274...40,770,112 		JBrowse link
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: HPS6-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6 OMIM
ClinVar		 PMID:12548288 PMID:17041891 PMID:19843503 PMID:20158590 PMID:24033266 More... NCBI chr28:14,614,434...14,617,138
Ensembl chr28:14,614,584...14,653,629 		JBrowse link
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DTNBP1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: DTNBP1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7 OMIM
ClinVar		 PMID:12923531 PMID:23364359 PMID:24033266 PMID:25741868 PMID:28259707 More... NCBI chr35:14,738,025...14,862,609
Ensembl chr35:14,738,029...14,864,169 		JBrowse link
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 ISO ClinVar Annotator: match by term: BLOC1S3-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8 OMIM
ClinVar		 PMID:16385460 PMID:22709368 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:110,325,351...110,328,226
Ensembl chr 1:110,326,843...110,327,442 		JBrowse link
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9 OMIM
ClinVar		 PMID:9536098 PMID:10610180 PMID:16199547 PMID:17576681 PMID:21665000 More... NCBI chr30:11,861,119...11,949,451
Ensembl chr30:11,811,339...11,937,353 		JBrowse link
immunodeficiency 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC1B actin related protein 2/3 complex subunit 1B ISO ClinVar Annotator: match by term: ARPC1B-related condition | ClinVar Annotator: match by term: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:27965109 More... NCBI chr 6:10,192,299...10,198,383
Ensembl chr 6:10,178,462...10,198,309 		JBrowse link
Isolated Macrothrombocytopenia 2, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBA8 tubulin alpha 8 ISO ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 2, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34704371 NCBI chr27:45,706,576...45,725,679
Ensembl chr27:45,675,472...45,725,681 		JBrowse link
IVIC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SALL4 spalt like transcription factor 4 ISO ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders OMIM
ClinVar		 PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 NCBI chr24:37,941,498...37,959,713
Ensembl chr24:37,940,034...38,037,287 		JBrowse link
Jacobsen Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330 		JBrowse link
G ACRV1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:8,844,035...8,850,557
Ensembl chr 5:8,846,834...8,850,567 		JBrowse link
G ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:4,457,879...4,480,210
Ensembl chr 5:4,457,959...4,479,875 		JBrowse link
G ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:4,479,874...4,517,211
Ensembl chr 5:4,496,791...4,516,594 		JBrowse link
G APLP2 amyloid beta precursor like protein 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:4,704,155...4,786,011
Ensembl chr 5:4,705,491...4,786,079 		JBrowse link
G ARHGAP32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:5,398,833...5,690,041
Ensembl chr 5:5,380,831...5,686,840 		JBrowse link
G B3GAT1 beta-1,3-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:741,231...747,641
Ensembl chr 5:745,747...748,899 		JBrowse link
G BARX2 BARX homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:5,238,795...5,311,027
Ensembl chr 5:5,239,517...5,310,648 		JBrowse link
G CCDC15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:9,425,436...9,505,370
Ensembl chr 5:9,425,997...9,504,919 		JBrowse link
G CDON cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:8,439,606...8,536,088
Ensembl chr 5:8,446,346...8,533,426 		JBrowse link
G CHEK1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:8,878,511...8,910,626
Ensembl chr 5:8,879,147...8,907,669 		JBrowse link
G DCPS decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:8,168,887...8,212,582
Ensembl chr 5:8,172,313...8,212,832 		JBrowse link
G DDX25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:8,566,748...8,585,965
Ensembl chr 5:8,566,754...8,586,020 		JBrowse link
G EI24 EI24 autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:8,949,886...8,963,967
Ensembl chr 5:8,950,883...8,963,967 		JBrowse link
G ESAM endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:9,658,920...9,667,134
Ensembl chr 5:9,658,937...9,667,141 		JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:6,059,023...6,189,516
Ensembl chr 5:6,058,935...6,186,232 		JBrowse link
G FAM118B family with sequence similarity 118 member B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:8,253,655...8,300,341
Ensembl chr 5:8,253,655...8,290,731 		JBrowse link
G FEZ1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:9,001,927...9,044,330
Ensembl chr 5:9,001,989...9,044,332 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: 11q partial monosomy syndrome | ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:25741868 PMID:28255014 PMID:28492532 PMID:31064749 PMID:32581362 NCBI chr 5:5,841,533...5,968,329
Ensembl chr 5:5,843,023...5,966,822 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:8,239,740...8,247,341
Ensembl chr 5:8,240,132...8,247,314 		JBrowse link
G GLB1L3 galactosidase beta 1 like 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:805,531...846,125
Ensembl chr 5:805,653...846,126 		JBrowse link
G HEPACAM hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:9,520,998...9,535,019
Ensembl chr 5:9,521,740...9,534,958 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:8,589,606...8,605,196
Ensembl chr 5:8,589,369...8,605,317 		JBrowse link
G IGSF9B immunoglobulin superfamily member 9B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:1,273,897...1,330,449
Ensembl chr 5:1,273,444...1,320,283 		JBrowse link
G JAM3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:1,082,619...1,165,188
Ensembl chr 5:1,084,560...1,165,121 		JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:5,783,242...5,813,961
Ensembl chr 5:5,809,118...5,812,794 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:5,736,544...5,760,705
Ensembl chr 5:5,740,176...5,760,866 		JBrowse link
G KIRREL3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:7,583,530...8,124,045
Ensembl chr 5:7,583,805...8,123,080 		JBrowse link
G LOC606786 beta-galactosidase-1-like protein 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:752,134...791,824
Ensembl chr 5:752,779...791,793 		JBrowse link
G MSANTD2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:9,623,023...9,654,860
Ensembl chr 5:9,622,842...9,654,641 		JBrowse link
G NCAPD3 non-SMC condensin II complex subunit D3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:1,021,588...1,081,846
Ensembl chr 5:1,020,690...1,081,446 		JBrowse link
G NFRKB nuclear factor related to kappaB binding protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:4,944,278...4,982,377
Ensembl chr 5:4,946,893...4,980,996 		JBrowse link
G NRGN neurogranin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:9,673,107...9,679,819
Ensembl chr 5:9,673,809...9,679,799 		JBrowse link
G NTM neurotrimin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:2,725,902...3,658,635
Ensembl chr 5:2,725,943...3,658,311 		JBrowse link
G OPCML opioid binding protein/cell adhesion molecule like ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:2,175,002...2,725,878
Ensembl chr 5:2,175,075...2,655,602 		JBrowse link
G OR8A1 olfactory receptor family 8 subfamily A member 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:9,826,884...9,827,816
Ensembl chr 5:9,826,884...9,827,813 		JBrowse link
G OR8B12 olfactory receptor family 8 subfamily B member 12 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:9,842,073...9,843,005
Ensembl chr 5:9,842,076...9,843,005 		JBrowse link
G OR8B3 olfactory receptor family 8 subfamily B member 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:9,992,796...9,993,878
Ensembl chr 5:9,992,874...9,993,818 		JBrowse link
G OR8B4 olfactory receptor family 8 subfamily B member 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:9,950,666...9,951,595 JBrowse link
G OR8B8 olfactory receptor family 8 subfamily B member 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:9,934,347...9,935,294 JBrowse link
G PANX3 pannexin 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:9,787,513...9,794,292
Ensembl chr 5:9,787,947...9,794,166 		JBrowse link
G PATE1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:8,677,688...8,697,018
Ensembl chr 5:8,691,821...8,693,049 		JBrowse link
G PATE2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:8,663,643...8,665,261
Ensembl chr 5:8,663,718...8,664,972 		JBrowse link
G PATE3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:8,638,789...8,651,797
Ensembl chr 5:8,638,749...8,640,265 		JBrowse link
G PKNOX2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:9,054,138...9,363,750
Ensembl chr 5:9,056,134...9,178,159 		JBrowse link
G PRDM10 PR/SET domain 10 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:4,845,250...4,941,891
Ensembl chr 5:4,879,192...4,939,649 		JBrowse link
G PUS3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:8,586,374...8,597,108
Ensembl chr 5:8,586,324...8,596,881 		JBrowse link
G ROBO3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:9,563,353...9,579,111
Ensembl chr 5:9,563,345...9,579,289 		JBrowse link
G ROBO4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:9,546,830...9,561,342
Ensembl chr 5:9,547,047...9,561,702 		JBrowse link
G RPUSD4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:8,300,421...8,311,193
Ensembl chr 5:8,299,771...8,311,210 		JBrowse link
G SIAE sialic acid acetylesterase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:9,719,444...9,770,574
Ensembl chr 5:9,731,394...9,769,227 		JBrowse link
G SLC37A2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:9,384,368...9,407,631
Ensembl chr 5:9,384,394...9,406,783 		JBrowse link
G SNX19 sorting nexin 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:4,044,597...4,085,438
Ensembl chr 5:4,045,097...4,084,363 		JBrowse link
G SPA17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:9,719,222...9,731,521
Ensembl chr 5:9,719,241...9,730,913 		JBrowse link
G SPATA19 spermatogenesis associated 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:1,357,720...1,362,312
Ensembl chr 5:1,357,750...1,362,270 		JBrowse link
G SRPRA SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:8,247,608...8,253,411
Ensembl chr 5:8,224,416...8,254,792 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069 		JBrowse link
G ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:8,132,663...8,160,008
Ensembl chr 5:8,133,085...8,141,254 		JBrowse link
G STT3A STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:8,916,428...8,942,097
Ensembl chr 5:8,910,940...8,942,146 		JBrowse link
G TBRG1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:9,771,130...9,784,125
Ensembl chr 5:9,773,214...9,783,945 		JBrowse link
G THYN1 thymocyte nuclear protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:992,126...999,609
Ensembl chr 5:993,705...999,597 		JBrowse link
G TIRAP TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:8,222,217...8,237,595
Ensembl chr 5:8,221,794...8,226,074 		JBrowse link
G TMEM218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:9,363,910...9,377,471
Ensembl chr 5:9,371,556...9,377,112 		JBrowse link
G TMEM45B transmembrane protein 45B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:4,985,019...5,032,358
Ensembl chr 5:4,985,200...5,032,365 		JBrowse link
G VPS26B VPS26, retromer complex component B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:1,000,035...1,020,195
Ensembl chr 5:999,392...1,020,196 		JBrowse link
G VSIG2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:9,667,280...9,673,008
Ensembl chr 5:9,668,335...9,672,952 		JBrowse link
G ZBTB44 zinc finger and BTB domain containing 44 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 5:4,574,604...4,641,431
Ensembl chr 5:4,574,243...4,635,066 		JBrowse link
Kaposiform Hemangioendothelioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF2 fibroblast growth factor 2 ISO RGD PMID:14517397 RGD:8655667 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151 		JBrowse link
G GNA14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Kaposiform hemangioendothelioma ClinVar PMID:25741868 PMID:27476652 NCBI chr 1:80,992,992...81,178,362
Ensembl chr 1:80,992,863...81,177,674 		JBrowse link
MYH-9 related disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH9 myosin heavy chain 9 ISO
IAGP		 ClinVar Annotator: match by term: MYH9-related disorder | ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | ClinVar Annotator: match by term: Sebastian platelet syndrome
May-Hegglin anomaly		 OMIM
ClinVar
OMIA		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More... NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953 		JBrowse link
G TUBB1 tubulin beta 1 class VI ISO ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ClinVar PMID:25741868 NCBI chr24:43,759,078...43,768,556
Ensembl chr24:43,759,555...43,771,737 		JBrowse link
Neonatal Alloimmune Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITGA2 integrin subunit alpha 2 ISO ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia ClinVar PMID:23368983 PMID:25741868 NCBI chr 4:62,170,137...62,268,962
Ensembl chr 4:62,170,452...62,268,983 		JBrowse link
G ITGA2B integrin subunit alpha 2b ISO ClinVar Annotator: match by term: BAK PLATELET-SPECIFIC ANTIGEN ClinVar PMID:2014236 PMID:25741868 PMID:28492532 NCBI chr 9:19,049,643...19,064,019
Ensembl chr 9:19,050,001...19,063,992 		JBrowse link
G ITGB3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Ca/Tu ALLOANTIGEN POLYMORPHISM | ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia | ClinVar Annotator: match by term: Mo ALLOANTIGEN POLYMORPHISM | ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM ClinVar PMID:1430225 PMID:2257303 PMID:7694683 PMID:8093349 PMID:8457479 More... NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451 		JBrowse link
platelet storage pool deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO OMIM:185050 MouseDO NCBI chr 3:28,481,974...28,748,095
Ensembl chr 3:28,481,038...28,751,258 		JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO OMIM:185050 MouseDO NCBI chr20:56,893,479...56,932,460
Ensembl chr20:56,893,535...56,931,830 		JBrowse link
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 ISO OMIM:185050 MouseDO NCBI chr35:7,860,336...7,998,461
Ensembl chr35:7,955,923...7,998,505 		JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO OMIM:185050 MouseDO NCBI chr30:11,861,119...11,949,451
Ensembl chr30:11,811,339...11,937,353 		JBrowse link
G DOCK7 dedicator of cytokinesis 7 ISO OMIM:185050 MouseDO NCBI chr 5:47,435,209...47,653,312
Ensembl chr 5:47,462,224...47,653,163 		JBrowse link
G DTNBP1 dystrobrevin binding protein 1 ISO OMIM:185050 MouseDO NCBI chr35:14,738,025...14,862,609
Ensembl chr35:14,738,029...14,864,169 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Storage pool disease of platelets ClinVar PMID:25741868 NCBI chr 9:51,380,697...51,394,679
Ensembl chr 9:51,380,696...51,392,812 		JBrowse link
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 ISO OMIM:185050 MouseDO NCBI chr28:11,547,457...11,572,248
Ensembl chr28:11,547,741...11,571,613 		JBrowse link
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO OMIM:185050 MouseDO NCBI chr23:43,939,829...43,979,446
Ensembl chr23:43,939,824...43,988,555 		JBrowse link
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 ISO OMIM:185050 MouseDO NCBI chr26:20,131,658...20,157,532
Ensembl chr26:19,933,281...20,157,058 		JBrowse link
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 ISO OMIM:185050 MouseDO NCBI chr21:40,725,089...40,770,665
Ensembl chr21:40,726,274...40,770,112 		JBrowse link
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Storage pool disease of platelets ClinVar PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr28:14,614,434...14,617,138
Ensembl chr28:14,614,584...14,653,629 		JBrowse link
G LYST lysosomal trafficking regulator ISO OMIM:185050 MouseDO NCBI chr 4:4,106,869...4,296,042
Ensembl chr 4:4,089,837...4,294,593 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO OMIM:185050 MouseDO NCBI chr30:20,633,576...20,706,240
Ensembl chr30:20,635,400...20,690,521 		JBrowse link
G RAB27B RAB27B, member RAS oncogene family ISO OMIM:185050 MouseDO NCBI chr 1:20,695,100...20,832,745
Ensembl chr 1:20,700,514...20,832,975 		JBrowse link
G RAB38 RAB38, member RAS oncogene family ISO RGD PMID:9250486 RGD:1302447 NCBI chr21:11,769,924...11,823,546
Ensembl chr21:11,769,351...11,822,815 		JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Storage pool disease of platelets ClinVar PMID:25741868 PMID:31064749 NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839 		JBrowse link
G SLC7A11 solute carrier family 7 member 11 ISO OMIM:185050 MouseDO NCBI chr19:4,289,792...4,379,060
Ensembl chr19:4,289,850...4,389,048 		JBrowse link
platelet-type bleeding disorder 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD36 CD36 molecule (CD36 blood group) ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 10 ClinVar
OMIM		 PMID:7533783 PMID:7686693 PMID:8696942 PMID:10890433 PMID:10946357 More... NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639 		JBrowse link
G SERPINE1 serpin family E member 1 severity ISO RGD PMID:18820218 RGD:13208509 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301 		JBrowse link
platelet-type bleeding disorder 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GP6 glycoprotein VI platelet ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 11 OMIM
ClinVar		 PMID:19549989 PMID:19552682 PMID:23815599 PMID:25741868 PMID:28492532 More... NCBI chr 1:102,586,229...102,612,067
Ensembl chr 1:102,585,544...102,613,905 		JBrowse link
Platelet-Type Bleeding Disorder 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation ClinVar PMID:32581362 NCBI chr10:46,261,747...46,300,084
Ensembl chr10:46,271,772...46,299,773 		JBrowse link
G TBXA2R thromboxane A2 receptor susceptibility ISO ClinVar Annotator: match by term: BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR | ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 13, susceptibility to | ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation OMIM
ClinVar		 PMID:2955539 PMID:7929844 PMID:8428006 PMID:8613548 PMID:19828703 More... NCBI chr20:55,819,866...55,829,395
Ensembl chr20:55,824,410...55,828,980 		JBrowse link
platelet-type bleeding disorder 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBXAS1 thromboxane A synthase 1 ISO ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 14 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:8,870,283...9,032,105
Ensembl chr16:8,870,284...9,023,462 		JBrowse link
platelet-type bleeding disorder 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN1 actinin alpha 1 ISO ClinVar Annotator: match by term: ACTN1-related condition | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23434115 PMID:24069336 PMID:25361813 More... NCBI chr 8:42,714,806...42,808,318
Ensembl chr 8:42,712,142...42,808,323 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia ClinVar PMID:23809206 PMID:26316623 NCBI chr 5:5,841,533...5,968,329
Ensembl chr 5:5,843,023...5,966,822 		JBrowse link
platelet-type bleeding disorder 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITGA2B integrin subunit alpha 2b ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 16 OMIM
ClinVar		 PMID:1638023 PMID:9215749 PMID:9834222 PMID:10607701 PMID:14687991 More... NCBI chr 9:19,049,643...19,064,019
Ensembl chr 9:19,050,001...19,063,992 		JBrowse link
G ITGB3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 16 ClinVar PMID:1371279 PMID:9351872 PMID:19570064 PMID:19821948 PMID:20106508 More... NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451 		JBrowse link
platelet-type bleeding disorder 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GFI1B growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 17 OMIM
ClinVar		 PMID:1065298 PMID:5681484 PMID:20861919 PMID:23927492 PMID:24325358 More... NCBI chr 9:51,380,697...51,394,679
Ensembl chr 9:51,380,696...51,392,812 		JBrowse link
platelet-type bleeding disorder 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RASGRP2 RAS guanyl releasing protein 2 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 18 | ClinVar Annotator: match by term: RASGRP2-related condition OMIM
ClinVar		 PMID:24958846 PMID:25741868 PMID:27235135 PMID:27663674 PMID:28492532 More... NCBI chr18:52,412,331...52,426,910
Ensembl chr18:52,412,367...52,426,916 		JBrowse link
platelet-type bleeding disorder 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLFN14 schlafen family member 14 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 20 | ClinVar Annotator: match by term: SLFN14-related condition OMIM
ClinVar		 PMID:25741868 PMID:26280575 PMID:26769223 PMID:28492532 PMID:29678925 More... NCBI chr 9:38,091,939...38,112,042
Ensembl chr 9:38,100,691...38,110,695 		JBrowse link
Platelet-Type Bleeding Disorder 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLI1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 21 OMIM
ClinVar		 PMID:23809206 PMID:24100448 PMID:25741868 PMID:26316623 PMID:28255014 More... NCBI chr 5:5,841,533...5,968,329
Ensembl chr 5:5,843,023...5,966,822 		JBrowse link
Platelet-Type Bleeding Disorder 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPHB2 EPH receptor B2 susceptibility ISO ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 22 ClinVar
OMIM		 PMID:30213874 NCBI chr 2:76,427,112...76,551,494
Ensembl chr 2:76,428,203...76,612,786 		JBrowse link
Platelet-Type Bleeding Disorder 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITGB3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 24 ClinVar
OMIM		 PMID:15583747 PMID:18065693 PMID:19336737 PMID:20081061 PMID:20804530 More... NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451 		JBrowse link
Platelet-Type Bleeding Disorder 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPM4 tropomyosin 4 ISO ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 25 OMIM
ClinVar		 PMID:28134622 PMID:34758189 PMID:35170221 NCBI chr20:46,354,808...46,376,489
Ensembl chr20:46,355,736...46,376,425 		JBrowse link
platelet-type bleeding disorder 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GP1BA glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 3 | ClinVar Annotator: match by term: Platelet-type von Willebrand disease | ClinVar Annotator: match by term: Pseudo von Willebrand disease OMIM
ClinVar		 PMID:2052556 PMID:8384898 PMID:8486780 PMID:12038791 PMID:18492106 More... NCBI chr 5:31,681,605...31,683,261 JBrowse link
platelet-type bleeding disorder 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED12L mediator complex subunit 12L ISO ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8 ClinVar PMID:7706468 PMID:11196645 PMID:12578987 PMID:20966167 PMID:25741868 More... NCBI chr23:45,701,890...45,987,504
Ensembl chr23:45,708,417...45,987,175 		JBrowse link
G P2RY12 purinergic receptor P2Y12 ISO
IAGP		 Bleeding disorder, P2RY12-related
ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8		 OMIM
OMIA
ClinVar		 PMID:7706468 PMID:11196645 PMID:12578987 PMID:20966167 PMID:21554368 More... NCBI chr23:45,908,574...45,954,675
Ensembl chr23:45,909,485...45,910,526 		JBrowse link
platelet-type bleeding disorder 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITGA2 integrin subunit alpha 2 ISO ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 ClinVar PMID:19500323 PMID:22862885 PMID:23368983 PMID:25741868 PMID:28492532 NCBI chr 4:62,170,137...62,268,962
Ensembl chr 4:62,170,452...62,268,983 		JBrowse link
G MOCS2 molybdenum cofactor synthesis 2 ISO ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 ClinVar NCBI chr 4:62,153,828...62,164,154
Ensembl chr 4:62,153,296...62,185,492 		JBrowse link
Posttransfusion Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITGB3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM ClinVar
OMIM		 PMID:1430225 PMID:9787162 PMID:14516468 PMID:21658138 PMID:25741868 More... NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451 		JBrowse link
Quebec platelet disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLAU plasminogen activator, urokinase ISO ClinVar Annotator: match by term: Quebec platelet disorder OMIM
ClinVar		 PMID:12689937 PMID:18988861 PMID:20007542 PMID:22102275 PMID:25741868 More... NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851 		JBrowse link
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA11 homeobox A11 ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS ClinVar PMID:25741868 NCBI chr14:40,355,907...40,360,120
Ensembl chr14:40,357,478...40,359,919 		JBrowse link
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA11 homeobox A11 ISO ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 OMIM
ClinVar		 PMID:11101832 PMID:25741868 NCBI chr14:40,355,907...40,360,120
Ensembl chr14:40,357,478...40,359,919 		JBrowse link
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV1 caveolin 1 ISO ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 ClinVar PMID:25741868 PMID:38177409 NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935 		JBrowse link
G MECOM MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: MECOM-related condition | ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20091385 PMID:25741868 PMID:26581901 More... NCBI chr34:33,747,495...34,299,389
Ensembl chr34:33,748,843...34,299,276 		JBrowse link
Stormorken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PGAP2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:28492532 NCBI chr21:26,348,328...26,371,266
Ensembl chr21:26,348,378...26,370,380 		JBrowse link
G RHOG ras homolog family member G ISO ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:28492532 NCBI chr21:26,371,868...26,373,395
Ensembl chr21:26,372,462...26,373,037 		JBrowse link
G STIM1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Stormorken syndrome | ClinVar Annotator: match by term: THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS OMIM
ClinVar		 PMID:4085141 PMID:9536098 PMID:12623447 PMID:12745453 PMID:12944247 More... NCBI chr21:26,394,592...26,594,764
Ensembl chr21:26,394,811...26,593,375 		JBrowse link
Takenouchi-Kosaki Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC403934 cell division cycle 42 ISO ClinVar Annotator: match by term: Takenouchi-Kosaki syndrome OMIM
ClinVar		 PMID:25741868 PMID:26386261 PMID:26708094 PMID:26795593 PMID:27513193 More... NCBI chr 2:77,153,276...77,169,947
Ensembl chr 2:77,153,095...77,199,211 		JBrowse link
Thrombocythemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPL MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Thrombocythemia 2 | ClinVar Annotator: match by term: Thrombocythemia 2, somatic OMIM
ClinVar		 PMID:8073287 PMID:11133753 PMID:14764528 PMID:15269348 PMID:16199547 More... NCBI chr15:16,815,102...16,825,321
Ensembl chr15:16,815,294...16,825,350 		JBrowse link
Thrombocythemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INSL6 insulin like 6 ISO ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3 ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:93,457,854...93,474,777
Ensembl chr 1:93,459,945...93,474,793 		JBrowse link
G JAK2 Janus kinase 2 ISO ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3 OMIM
ClinVar		 PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997 		JBrowse link
thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:31064749 PMID:32088153 NCBI chr10:46,261,747...46,300,084
Ensembl chr10:46,271,772...46,299,773 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:32935436 NCBI chr10:46,300,142...46,319,592
Ensembl chr10:46,300,165...46,319,229 		JBrowse link
G ACBD5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:6,873,207...6,923,152
Ensembl chr 2:6,874,831...6,922,082 		JBrowse link
G ACTB actin beta ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10411937 PMID:25255767 PMID:25741868 PMID:30315159 NCBI chr 6:12,421,006...12,424,449
Ensembl chr 6:12,418,932...12,462,845 		JBrowse link
G ACTN1 actinin alpha 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:23434115 PMID:24069336 PMID:25361813 PMID:25741868 PMID:28492532 More... NCBI chr 8:42,714,806...42,808,318
Ensembl chr 8:42,712,142...42,808,323 		JBrowse link
G ACVRL1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:20501893 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr27:3,075,373...3,090,549
Ensembl chr27:3,076,124...3,092,469 		JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709 		JBrowse link
G ANKRD26 ankyrin repeat domain containing 26 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10521306 PMID:20626622 PMID:21211618 PMID:21467542 PMID:22672365 More... NCBI chr 2:6,230,466...6,402,360 JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:32935436 NCBI chr 3:28,481,974...28,748,095
Ensembl chr 3:28,481,038...28,751,258 		JBrowse link
G ASPG asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2187653 NCBI chr 8:71,747,319...71,764,570
Ensembl chr 8:71,753,164...71,765,349 		JBrowse link
G B9D2 B9 domain containing 2 ISO protein:decreased expression:plasma: RGD PMID:22134166 RGD:11073617 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 ISO human gene in a mouse model RGD PMID:15613547 RGD:11252148 NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO associated with Lupus Erythematosus, Systemic;DNA:snp:promoter:g.-2518A>G (human) RGD PMID:20414371 RGD:11528535 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CD40LG CD40 ligand treatment ISO associated with Malaria RGD PMID:11865192 RGD:11352243 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006 		JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624 		JBrowse link
G CLIC6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr31:30,003,448...30,102,939
Ensembl chr31:30,091,335...30,100,842 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr36:30,538,863...30,677,450
Ensembl chr36:30,540,229...30,691,564 		JBrowse link
G CSF2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8297739 NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959 		JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7543699 PMID:12085204 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108 		JBrowse link
G CYCS cytochrome c, somatic no_association ISO ClinVar Annotator: match by term: Thrombocytopenia RGD
ClinVar		 PMID:18345000 PMID:19172527 PMID:22102269 PMID:24326104 PMID:25741868 More... RGD:11352702 NCBI chr14:38,579,446...38,581,983
Ensembl chr14:38,579,446...38,581,983 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:31064749 PMID:32088153 NCBI chr10:46,231,433...46,270,102
Ensembl chr10:46,231,460...46,290,382 		JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:8260696 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144 		JBrowse link
G ETV6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25581430 PMID:25741868 PMID:26522332 PMID:27365488 PMID:28492532 More... NCBI chr27:34,351,206...34,587,060
Ensembl chr27:34,343,390...34,587,060 		JBrowse link
G F10 coagulation factor X ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr22:60,585,563...60,597,027
Ensembl chr22:60,571,822...60,597,024 		JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:2052060 PMID:2813350 PMID:9326232 PMID:10593931 PMID:15026311 More... NCBI chr16:44,469,609...44,492,833
Ensembl chr16:44,469,632...44,540,292 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:34355501 NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296 		JBrowse link
G F7 coagulation factor VII treatment ISO human protein in a rat model RGD PMID:19175492 RGD:11049531 NCBI chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024 		JBrowse link
G FGA fibrinogen alpha chain treatment ISO ClinVar Annotator: match by term: Thrombocytopenia RGD
ClinVar		 PMID:2005585 PMID:25741868 PMID:28492532 RGD:10755505 NCBI chr15:52,238,305...52,247,017
Ensembl chr15:52,236,198...52,246,975 		JBrowse link
G FGB fibrinogen beta chain ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10688828 PMID:19420351 PMID:20978265 PMID:24033266 PMID:25741868 More... NCBI chr15:52,220,690...52,228,526
Ensembl chr15:52,220,611...52,228,250 		JBrowse link
G FGG fibrinogen gamma chain ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10688828 PMID:15795540 PMID:17938819 PMID:19300242 PMID:21228398 More... NCBI chr15:52,261,215...52,270,077
Ensembl chr15:52,261,217...52,269,964 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24100448 PMID:32581362 NCBI chr 5:5,841,533...5,968,329
Ensembl chr 5:5,843,023...5,966,822 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:18414213 PMID:21836662 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:11418466 PMID:20301538 PMID:23278136 PMID:25741868 PMID:31064749 More... NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303 		JBrowse link
G GBA1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855 More... NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:31064749 NCBI chr 9:51,380,697...51,394,679
Ensembl chr 9:51,380,696...51,392,812 		JBrowse link
G GGCX gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:32935436 NCBI chr17:39,512,293...39,525,251
Ensembl chr17:39,512,387...39,529,121 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24796702 PMID:25741868 PMID:26980148 PMID:28320138 PMID:28492532 More... NCBI chr11:52,688,295...52,731,160
Ensembl chr11:52,689,343...52,731,231 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:8384898 PMID:25741868 PMID:29082515 PMID:31064749 PMID:34355501 NCBI chr 5:31,681,605...31,683,261 JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10887115 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501 NCBI chr26:29,567,437...29,568,627
Ensembl chr26:29,528,366...29,568,522 		JBrowse link
G GP9 glycoprotein IX platelet ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:8049428 PMID:8481514 PMID:14510954 PMID:25370924 PMID:25741868 More... NCBI chr20:3,027,790...3,029,496 JBrowse link
G IFNL3 interferon lambda 3 treatment ISO associated with Hepatitis C, Chronic;DNA:SNP: :rs8099917(human) RGD PMID:24304453 RGD:11528555
G IL10 interleukin 10 severity ISO associated with Malaria, Vivax RGD PMID:11091188 PMID:25128199 RGD:11041893 RGD:11049172 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G IL1B interleukin 1 beta treatment ISO RGD PMID:1331350 RGD:10450883 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G IL3 interleukin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:8202718 NCBI chr11:20,330,480...20,332,668
Ensembl chr11:20,330,480...20,332,668 		JBrowse link
G IL6 interleukin 6 severity ISO associated with Malaria, Vivax RGD PMID:25128199 RGD:11041893 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G ITGA2 integrin subunit alpha 2 ISO associated with Hantavirus Infections;DNA:SNP: :807C>T (rs1126643) (human) RGD PMID:22133274 RGD:11530072 NCBI chr 4:62,170,137...62,268,962
Ensembl chr 4:62,170,452...62,268,983 		JBrowse link
G ITGA2B integrin subunit alpha 2b ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:1638023 PMID:9215749 PMID:9834222 PMID:18065693 PMID:19805198 More... NCBI chr 9:19,049,643...19,064,019
Ensembl chr 9:19,050,001...19,063,992 		JBrowse link
G ITGB3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:31064749 PMID:32581362 NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451 		JBrowse link
G ITPA inosine triphosphatase treatment ISO associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:18662289 PMID:24519039 RGD:10766473 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr31:29,858,428...29,868,315 JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr31:29,777,154...29,777,839
Ensembl chr31:29,581,658...29,777,525 		JBrowse link
G LOC610164 carbonyl reductase [NADPH] 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr31:31,316,573...31,321,413 JBrowse link
G MASTL microtubule associated serine/threonine kinase like ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:6,829,309...6,863,876
Ensembl chr 2:6,830,168...6,863,568 		JBrowse link
G MBL1 mannose binding lectin 1 susceptibility ISO associated with Dengue;DNA:SNP:exon: RGD PMID:18361938 RGD:11530042 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar NCBI chr10:49,091,466...49,101,769
Ensembl chr10:49,092,908...49,101,775 		JBrowse link
G MECOM MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr34:33,747,495...34,299,389
Ensembl chr34:33,748,843...34,299,276 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor ameliorates ISO associated with End Stage Liver Disease
ClinVar Annotator: match by term: Thrombocytopenia		 RGD
ClinVar		 PMID:971406 PMID:8073287 PMID:10971406 PMID:11133753 PMID:11972523 More... RGD:126925754 NCBI chr15:16,815,102...16,825,321
Ensembl chr15:16,815,294...16,825,350 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :677C>T, 1793G>A (human)
CTD Direct Evidence: marker/mechanism
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :1298A>C (human)		 RGD
CTD		 PMID:19391036 PMID:23498762 RGD:10449418 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:1449176 PMID:10973259 PMID:11159552 PMID:11590545 PMID:11776386 More... NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 NCBI chr 3:62,164,888...62,228,006
Ensembl chr 3:62,167,939...62,228,035 		JBrowse link
G P2RY12 purinergic receptor P2Y12 ISO associated with Thrombosis RGD PMID:21652673 RGD:6480523 NCBI chr23:45,908,574...45,954,675
Ensembl chr23:45,909,485...45,910,526 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778 		JBrowse link
G PLCB2 phospholipase C beta 2 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 NCBI chr30:7,472,208...7,493,106
Ensembl chr30:7,472,413...7,492,801 		JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:29987015 PMID:33158637 NCBI chr10:56,478,771...56,520,992
Ensembl chr10:56,478,680...56,520,967 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:4746100 PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 More... NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		JBrowse link
G RCAN1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr31:29,908,046...30,002,412
Ensembl chr31:29,909,388...30,002,418 		JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10068652 PMID:10508512 PMID:10973259 PMID:11830488 PMID:12002768 More... NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839 		JBrowse link
G SETD4 SET domain containing 4 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr31:31,283,623...31,309,527
Ensembl chr31:31,150,596...31,309,687 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO mRNA:decreased expression:erythrocyte (mouse) RGD PMID:22279059 RGD:10450520 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915 		JBrowse link
G SLC5A3 solute carrier family 5 member 3 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr31:28,610,332...28,635,233
Ensembl chr31:28,610,332...28,635,233 		JBrowse link
G SMIM11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:32581362 NCBI chr31:29,781,693...29,818,886 JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711 		JBrowse link
G TBXA2R thromboxane A2 receptor ISO RGD PMID:2528013 RGD:11059527 NCBI chr20:55,819,866...55,829,395
Ensembl chr20:55,824,410...55,828,980 		JBrowse link
G THBD thrombomodulin ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:10102456 PMID:11552992 PMID:11986219 PMID:19625716 PMID:20595690 More... NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649 		JBrowse link
G THPO thrombopoietin ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28466964 PMID:28559357 PMID:31064749 PMID:32150607 NCBI chr34:17,245,006...17,255,250
Ensembl chr34:17,247,731...17,253,033 		JBrowse link
G TNF tumor necrosis factor severity ISO associated with Hemorrhagic Fever with Renal Syndrome;DNA:SNP:promoter:-238G>A (human)
associated with Malaria, Vivax		 RGD PMID:16987073 PMID:25128199 RGD:10449459 RGD:11041893 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TUBB1 tubulin beta 1 class VI ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:24777453 PMID:25741868 PMID:27346686 PMID:28054583 PMID:28492532 More... NCBI chr24:43,759,078...43,768,556
Ensembl chr24:43,759,555...43,771,737 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:53,220,199...53,239,738
Ensembl chr 3:53,220,194...53,239,732 		JBrowse link
G VWF von Willebrand factor ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:1581215 PMID:1832934 PMID:1906877 PMID:1918030 PMID:3259690 More... NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142 		JBrowse link
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:7753869 PMID:8666397 PMID:8757563 PMID:9326235 PMID:11167787 More... NCBI chr  X:41,882,240...41,890,053
Ensembl chr  X:41,882,875...41,890,058 		JBrowse link
G WDR1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17515402 NCBI chr 3:69,305,731...69,348,183
Ensembl chr 3:69,305,731...69,348,177 		JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: Thrombocytopenia ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935 		JBrowse link
Thrombocytopenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 ISO associated with Beta-Thalassemia;DNA:missense mutation: :p.R216Q (human) RGD PMID:12200364 RGD:10450747 NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303 		JBrowse link
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 | ClinVar Annotator: match by term: Thrombocytopenia 1 | ClinVar Annotator: match by term: Thrombocytopenia, X-linked OMIM
ClinVar		 PMID:3284030 PMID:7579329 PMID:7753869 PMID:7795648 PMID:8528198 More... NCBI chr  X:41,882,240...41,890,053
Ensembl chr  X:41,882,875...41,890,058 		JBrowse link
Thrombocytopenia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTPRJ protein tyrosine phosphatase receptor type J ISO ClinVar Annotator: match by term: Thrombocytopenia 10 OMIM
ClinVar		 PMID:30591527 NCBI chr18:41,586,262...41,635,386
Ensembl chr18:41,586,112...41,635,308 		JBrowse link
Thrombocytopenia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAP1B RAP1B, member of RAS oncogene family ISO ClinVar Annotator: match by term: Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies OMIM
ClinVar		 PMID:12213964 PMID:25741868 PMID:25935485 PMID:29235861 PMID:32627184 More... NCBI chr10:10,805,359...10,816,839
Ensembl chr10:10,805,357...10,815,575 		JBrowse link
Thrombocytopenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACBD5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Thrombocytopenia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:6,873,207...6,923,152
Ensembl chr 2:6,874,831...6,922,082 		JBrowse link
G ANKRD26 ankyrin repeat domain containing 26 ISO ClinVar Annotator: match by term: ANKRD26-related condition | ClinVar Annotator: match by term: Thrombocytopenia 2 OMIM
ClinVar		 PMID:10521306 PMID:17666371 PMID:20626622 PMID:21211618 PMID:21467542 More... NCBI chr 2:6,230,466...6,402,360 JBrowse link
G MASTL microtubule associated serine/threonine kinase like ISO ClinVar Annotator: match by term: Thrombocytopenia 2 ClinVar PMID:10891439 PMID:12890928 PMID:19460416 PMID:22102272 PMID:25741868 More... NCBI chr 2:6,829,309...6,863,876
Ensembl chr 2:6,830,168...6,863,568 		JBrowse link
Thrombocytopenia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FYB1 FYN binding protein 1 ISO ClinVar Annotator: match by term: Thrombocytopenia 3 OMIM
ClinVar		 PMID:25741868 PMID:25876182 NCBI chr 4:69,729,481...69,876,962
Ensembl chr 4:69,729,462...69,874,845 		JBrowse link
Thrombocytopenia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYCS cytochrome c, somatic ISO ClinVar Annotator: match by term: Thrombocytopenia 4 OMIM
ClinVar		 PMID:18345000 PMID:22102269 PMID:24326104 PMID:25741868 PMID:28492532 More... NCBI chr14:38,579,446...38,581,983
Ensembl chr14:38,579,446...38,581,983 		JBrowse link
Thrombocytopenia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ETV6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Thrombocytopenia 5 OMIM
ClinVar		 PMID:9694803 PMID:15806161 PMID:17988997 PMID:18305557 PMID:21680795 More... NCBI chr27:34,351,206...34,587,060
Ensembl chr27:34,343,390...34,587,060 		JBrowse link
Thrombocytopenia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRC SRC proto-oncogene, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Thrombocytopenia 6 OMIM
ClinVar		 PMID:25741868 PMID:26936507 PMID:32581362 NCBI chr24:25,982,499...26,019,748
Ensembl chr24:25,999,048...26,018,077 		JBrowse link
Thrombocytopenia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT alanine--glyoxylate and serine--pyruvate aminotransferase IAGP Hyperoxaluria, primary, type I (Oxalosis I) OMIA PMID:1672096 PMID:2394849 PMID:22486513 NCBI chr25:50,968,291...50,976,089 JBrowse link
G IKZF5 IKAROS family zinc finger 5 ISO ClinVar Annotator: match by term: Thrombocytopenia 7 OMIM
ClinVar		 PMID:25741868 PMID:31217188 PMID:32419556 NCBI chr28:32,547,300...32,564,471
Ensembl chr28:32,550,437...32,562,804 		JBrowse link
Thrombocytopenia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta ISO ClinVar Annotator: match by term: Thrombocytopenia 8, with dysmorphic features and developmental delay OMIM
ClinVar		 PMID:10411937 PMID:25255767 PMID:28492532 PMID:30315159 PMID:30733661 More... NCBI chr 6:12,421,006...12,424,449
Ensembl chr 6:12,418,932...12,462,845 		JBrowse link
Thrombocytopenia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THPO thrombopoietin ISO ClinVar Annotator: match by term: Thrombocytopenia 9 OMIM
ClinVar		 PMID:25741868 PMID:28466964 PMID:28492532 PMID:28559357 PMID:31064749 More... NCBI chr34:17,245,006...17,255,250
Ensembl chr34:17,247,731...17,253,033 		JBrowse link
thrombocytopenia due to platelet alloimmunization term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III treatment ISO DNA:SNP:cds: RGD PMID:22775462 RGD:11040770 NCBI chr38:21,054,870...21,060,948 JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: IMMUNE THROMBOCYTOPENIA ClinVar PMID:33087723 NCBI chr 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557 		JBrowse link
Thrombocytopenia, Anemia, and Myelofibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPIG6B megakaryocyte and platelet inhibitory receptor G6b ISO ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis OMIM
ClinVar		 PMID:25741868 PMID:25741905 PMID:27743390 NCBI chr12:1,202,297...1,205,867
Ensembl chr12:1,202,721...1,204,655 		JBrowse link
thrombocytopenia-absent radius syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr17:58,213,016...58,230,934
Ensembl chr17:58,193,586...58,230,491 		JBrowse link
G ANKRD34A ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr17:58,749,788...58,771,464
Ensembl chr17:58,750,678...58,752,234 		JBrowse link
G ANKRD35 ankyrin repeat domain 35 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr17:58,665,626...58,682,761
Ensembl chr17:58,665,905...58,682,398 		JBrowse link
G BCL9 BCL9 transcription coactivator ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr17:58,105,914...58,189,065
Ensembl chr17:58,168,375...58,189,062 		JBrowse link
G CD160 CD160 molecule ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr17:58,548,137...58,564,077
Ensembl chr17:58,555,851...58,563,341 		JBrowse link
G CHD1L chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr17:57,725,823...57,806,065
Ensembl chr17:57,725,640...57,806,048 		JBrowse link
G FMO5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr17:57,665,879...57,698,540
Ensembl chr17:57,666,762...57,697,982 		JBrowse link
G GJA5 gap junction protein alpha 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr17:58,289,327...58,305,315
Ensembl chr17:58,289,327...58,305,315 		JBrowse link
G GJA8 gap junction protein alpha 8 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr17:58,360,313...58,428,751
Ensembl chr17:58,424,072...58,425,391 		JBrowse link
G GPR89A G protein-coupled receptor 89A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr17:58,436,920...58,498,082 JBrowse link
G HJV hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr17:58,792,647...58,797,504
Ensembl chr17:58,793,247...58,797,373 		JBrowse link
G ITGA10 integrin subunit alpha 10 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr17:58,696,356...58,712,174
Ensembl chr17:58,697,392...58,711,794 		JBrowse link
G LIX1L limb and CNS expressed 1 like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr17:58,729,143...58,747,869
Ensembl chr17:58,731,685...58,747,856 		JBrowse link
G LOC119864345 U1 spliceosomal RNA ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar
G LOC119873060 U1 spliceosomal RNA ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar
G LOC483905 peptidyl-prolyl cis-trans isomerase A-like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr19:42,982,979...42,983,440 JBrowse link
G NUDT17 nudix hydrolase 17 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr17:58,648,234...58,653,222
Ensembl chr17:58,648,272...58,650,757 		JBrowse link
G PDZK1 PDZ domain containing 1 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr17:58,496,977...58,536,772 JBrowse link
G PEX11B peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr17:58,713,304...58,718,795
Ensembl chr17:58,712,902...58,718,647 		JBrowse link
G PIAS3 protein inhibitor of activated STAT 3 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr17:58,650,791...58,660,755
Ensembl chr17:58,571,694...58,660,663 		JBrowse link
G POLR3C RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr17:58,634,299...58,646,056
Ensembl chr17:58,636,244...58,645,838 		JBrowse link
G POLR3GL RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr17:58,751,942...58,764,946
Ensembl chr17:58,751,604...58,764,881 		JBrowse link
G PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr17:57,614,499...57,630,041
Ensembl chr17:57,616,451...57,630,041 		JBrowse link
G RBM8A RNA binding motif protein 8A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome OMIM
ClinVar		 PMID:9536098 PMID:16501574 PMID:17236129 PMID:17576681 PMID:20301781 More... NCBI chr17:58,722,449...58,726,017
Ensembl chr17:58,724,227...58,725,969 		JBrowse link
G RNF115 ring finger protein 115 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr17:58,566,761...58,634,967
Ensembl chr17:58,571,694...58,660,663 		JBrowse link
G TXNIP thioredoxin interacting protein ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr17:58,775,588...58,779,730
Ensembl chr17:58,776,871...58,779,531 		JBrowse link
Thrombocytopenic Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GP9 glycoprotein IX platelet ISO RGD PMID:23103637 RGD:11040532 NCBI chr20:3,027,790...3,029,496 JBrowse link
G ITGA2B integrin subunit alpha 2b ISO RGD PMID:11493456 RGD:2316362 NCBI chr 9:19,049,643...19,064,019
Ensembl chr 9:19,050,001...19,063,992 		JBrowse link
G ITGB3 integrin subunit beta 3 ISO associated with HIV Infections RGD PMID:8565280 PMID:11493456 RGD:10755471 RGD:2316362 NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451 		JBrowse link
thrombocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALR calreticulin ISO human gene in a mouse model;DNA:deletion, insertion:cds:c.1179_1230del, c.1234_1235insTTGTC (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:26608331 RGD:11352752 NCBI chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245 		JBrowse link
G CPB2 carboxypeptidase B2 ISO RGD PMID:16244771 RGD:1598473 NCBI chr22:5,074,805...5,126,635
Ensembl chr22:5,074,816...5,126,170 		JBrowse link
G EPOR erythropoietin receptor ISO RGD PMID:8400289 RGD:11041647 NCBI chr20:49,945,777...49,950,856
Ensembl chr20:49,945,777...49,950,856 		JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:2265245 RGD:10450885 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G JAK2 Janus kinase 2 ISO associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F
essential thrombocythemia, OMIM:187950; DNA:transversion:CDS:1849G>T, amino acid V617F
CTD Direct Evidence: marker/mechanism
DNA:point mutations: :p.S755R, p.R938Q (human)		 RGD
CTD		 PMID:15781101 PMID:19287382 PMID:19287384 PMID:22467227 PMID:24398328 RGD:10449375 RGD:15039391 RGD:1627655 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997 		JBrowse link
G LOC111094198 protocadherin alpha-5-like ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr 2:35,935,228...35,937,624 JBrowse link
G LOC478037 protocadherin alpha-6 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868 NCBI chr 2:35,943,781...36,062,929 JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor ISO DNA:mutation:cds:c.317C > T,p.P106L(human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15813844 PMID:16484586 PMID:19036112 RGD:11073684 NCBI chr15:16,815,102...16,825,321
Ensembl chr15:16,815,294...16,825,350 		JBrowse link
G PCDHA1 protocadherin alpha 1 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868
G PCDHA10 protocadherin alpha 10 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868
G PCDHA3 protocadherin alpha 3 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868
G PCDHA4 protocadherin alpha 4 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868
G PCDHA6 protocadherin alpha 6 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868
G PCDHA7 protocadherin alpha 7 ISO ClinVar Annotator: match by term: Thrombocytosis ClinVar PMID:25741868
G SH2B3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr26:9,033,851...9,073,095
Ensembl chr26:9,005,281...9,070,204 		JBrowse link
G THPO thrombopoietin susceptibility ISO DNA:deletion:5' utr
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:9694695 PMID:15813844 PMID:33122006 RGD:1601655 NCBI chr34:17,245,006...17,255,250
Ensembl chr34:17,247,731...17,253,033 		JBrowse link
Thrombocytosis, Benign Familial Microcytic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPL MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Thrombocytosis, benign familial microcytic ClinVar PMID:8073287 PMID:11133753 PMID:16199547 PMID:16470591 PMID:18090929 More... NCBI chr15:16,815,102...16,825,321
Ensembl chr15:16,815,294...16,825,350 		JBrowse link
Thrombotic Microangiopathies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14625834 PMID:16388419 NCBI chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295 		JBrowse link
G ATRIP ATR interacting protein ISO ClinVar Annotator: match by term: Thrombotic microangiopathy ClinVar PMID:29941221 NCBI chr20:40,626,828...40,642,689
Ensembl chr20:40,626,831...40,642,594 		JBrowse link
G C3 complement C3 treatment ISO RGD PMID:11532096 RGD:5129554 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761 		JBrowse link
G CFH complement factor H ISO ClinVar Annotator: match by term: Thrombotic microangiopathy ClinVar PMID:25741868 PMID:26283675 PMID:28492532 PMID:34912830 NCBI chr38:2,878,677...2,956,226 JBrowse link
G CFI complement factor I ISO ClinVar Annotator: match by term: Thrombotic microangiopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr32:29,936,447...29,986,755
Ensembl chr32:29,936,393...29,985,724 		JBrowse link
G CPB2 carboxypeptidase B2 ISO DNA:polymorphism: ;1542C>G(human) RGD PMID:17327284 RGD:7243121 NCBI chr22:5,074,805...5,126,635
Ensembl chr22:5,074,816...5,126,170 		JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:19535796 RGD:11341690 NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607 		JBrowse link
G FGG fibrinogen gamma chain ISO RGD PMID:17038160 RGD:11352673 NCBI chr15:52,261,215...52,270,077
Ensembl chr15:52,261,217...52,269,964 		JBrowse link
G GP6 glycoprotein VI platelet ISO protein:increased expression:plasma (human) RGD PMID:24325877 RGD:401794444 NCBI chr 1:102,586,229...102,612,067
Ensembl chr 1:102,585,544...102,613,905 		JBrowse link
G ITGB3 integrin subunit beta 3 ISO associated with Chronic Allograft Dysfunction;protein:increased expression:arteriole RGD PMID:18234279 RGD:10755463 NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451 		JBrowse link
G LOC609365 CD46 molecule, complement regulatory protein-like ISO ClinVar Annotator: match by term: Thrombotic microangiopathy ClinVar PMID:16199547 PMID:16621965 PMID:16762990 PMID:23431077 PMID:23519521 More... NCBI chr 7:6,602,762...6,646,561 JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19448163 RGD:6893633 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:Increased expression:kidney:neutrophil, endothelial cell, kidney: RGD PMID:10908153 RGD:11533936 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased expression:kidney: RGD PMID:10908153 RGD:11533936 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G TREX1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Thrombotic microangiopathy ClinVar PMID:29941221 NCBI chr20:40,624,845...40,626,840
Ensembl chr20:40,624,891...40,626,906 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22808199 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G VWF von Willebrand factor disease_progression ISO protein:increased expression:plasma RGD PMID:20439183 PMID:21153061 RGD:7205650 RGD:7207026 NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142 		JBrowse link
thrombotic thrombocytopenic purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO ClinVar Annotator: match by term: ADAMTS13-related condition | ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura | ClinVar Annotator: match by term: Upshaw-Schulman syndrome OMIM
ClinVar		 PMID:1787257 PMID:6433703 PMID:7094941 PMID:9536098 PMID:11563771 More... NCBI chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO RGD PMID:7529543 RGD:11041104 NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO DNA:polymorphisms:cds:HLA-DQB1*0301 (human) RGD PMID:19922436 RGD:11041754 NCBI chr12:2,305,307...2,307,711 JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607 		JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:10936861 RGD:11100014 NCBI chr19:23,173,626...23,183,634
Ensembl chr19:23,173,635...23,183,563 		JBrowse link
G TFPI tissue factor pathway inhibitor treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:7740478 RGD:11340214 NCBI chr36:29,457,131...29,546,455
Ensembl chr36:29,459,371...29,511,310 		JBrowse link
G THBD thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649 		JBrowse link
Thrombotic Thrombocytopenic Purpura, Acquired term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 treatment ISO human protein in a rat model RGD PMID:9828246 PMID:26338302 RGD:10449039 RGD:10449097 NCBI chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295 		JBrowse link
G VWF von Willebrand factor treatment ISO RGD PMID:26863353 RGD:11079195 NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142 		JBrowse link
Von Willebrand Factor, Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Reduced von Willebrand factor activity ClinVar PMID:32581362 NCBI chr10:49,091,466...49,101,769
Ensembl chr10:49,092,908...49,101,775 		JBrowse link
G VWF von Willebrand factor ISO ClinVar Annotator: match by term: Reduced von Willebrand factor activity ClinVar PMID:3257148 PMID:8456430 PMID:9253800 PMID:10669167 PMID:11756169 More... NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142 		JBrowse link
von Willebrand's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F3 coagulation factor III, tissue factor ISO RGD PMID:4546024 RGD:11341671 NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607 		JBrowse link
G VWF von Willebrand factor treatment ISO ClinVar Annotator: match by term: Hereditary von Willebrand disease | ClinVar Annotator: match by term: Von Willebrand disease, recessive form | ClinVar Annotator: match by term: von Willebrand disorder RGD
ClinVar		 PMID:1301136 PMID:1302613 PMID:1324533 PMID:1380739 PMID:1415226 More... RGD:11079196 NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142 		JBrowse link
von Willebrand's disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITGA2 integrin subunit alpha 2 no_association
severity		 ISO DNA:SNP: :807C>T (human) RGD PMID:14652648 PMID:15226188 RGD:10766468 RGD:11530070 NCBI chr 4:62,170,137...62,268,962
Ensembl chr 4:62,170,452...62,268,983 		JBrowse link
G ITGA2B integrin subunit alpha 2b severity ISO DNA:haplotype:cds: RGD PMID:15226188 RGD:10766468 NCBI chr 9:19,049,643...19,064,019
Ensembl chr 9:19,050,001...19,063,992 		JBrowse link
G PLAT plasminogen activator, tissue type treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chr16:23,469,590...23,496,013 JBrowse link
G VWF von Willebrand factor ISO ClinVar Annotator: match by term: VWD, TYPE 1 | ClinVar Annotator: match by term: von Willebrand disease type 1 | ClinVar Annotator: match by term: von Willebrand disease, type 1, susceptibility to OMIM
ClinVar		 PMID:1301136 PMID:1302613 PMID:1373334 PMID:1415226 PMID:1581215 More... NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142 		JBrowse link
von Willebrand's disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO protein:decreased expression:plasma RGD PMID:16409463 RGD:10766469 NCBI chr  X:122,894,974...123,046,343
Ensembl chr  X:122,885,162...123,043,414 		JBrowse link
G ITGA2 integrin subunit alpha 2 severity ISO DNA:haplotype:promoter: RGD PMID:16409463 RGD:10766469 NCBI chr 4:62,170,137...62,268,962
Ensembl chr 4:62,170,452...62,268,983 		JBrowse link
G ITGA2B integrin subunit alpha 2b no_association ISO DNA:haplotype:: RGD PMID:16409463 RGD:10766469 NCBI chr 9:19,049,643...19,064,019
Ensembl chr 9:19,050,001...19,063,992 		JBrowse link
G VWF von Willebrand factor treatment ISO
IAGP		 ClinVar Annotator: match by term: VWD, TYPE 2 | ClinVar Annotator: match by term: Von Willebrand disease type 2A | ClinVar Annotator: match by term: Von Willebrand disease type 2B | ClinVar Annotator: match by term: von Willebrand disease type 2 | ClinVar Annotator: match by term: von Willebrand disease type 2M | ClinVar Annotator: match by term: von Willebrand disease type 2N
Von Willebrand disease II		 OMIM
ClinVar
OMIA
RGD		 PMID:1324533 PMID:1373334 PMID:1380739 PMID:1409710 PMID:1415226 More... RGD:11079203 NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142 		JBrowse link
von Willebrand's disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VWF von Willebrand factor ISO ClinVar Annotator: match by term: VON WILLEBRAND DISEASE, TYPE III | ClinVar Annotator: match by term: von Willebrand disease type 3 OMIM
ClinVar		 PMID:1301136 PMID:1302613 PMID:1415226 PMID:1581215 PMID:1832934 More... NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142 		JBrowse link
X-linked dyserythropoietic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES OMIM
ClinVar		 PMID:871527 PMID:12200364 PMID:14691578 PMID:15895080 PMID:16783379 More... NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303 		JBrowse link
X-linked thrombocytopenia with beta-thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Beta-thalassemia-X-linked thrombocytopenia syndrome | ClinVar Annotator: match by term: Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis OMIM
ClinVar		 PMID:871527 PMID:12200364 PMID:14691578 PMID:16783379 PMID:17148589 More... NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303 		JBrowse link
X-Linked Thrombocytopenia, Intermittent term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked, intermittent ClinVar PMID:11877312 NCBI chr  X:41,882,240...41,890,053
Ensembl chr  X:41,882,875...41,890,058 		JBrowse link
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, without dyserythropoietic anemia OMIM
ClinVar		 PMID:871527 PMID:3164080 PMID:10700180 PMID:11418466 PMID:11809723 More... NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303 		JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO DNA:missense mutation:multiple (human) RGD PMID:28942350 RGD:151232291 NCBI chr  X:12,046,163...12,073,617
Ensembl chr  X:12,046,921...12,073,440 		JBrowse link
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DBR1 debranching RNA lariats 1 ISO ClinVar Annotator: match by term: Xerosis and growth failure with immune and pulmonary dysfunction syndrome ClinVar
OMIM		 PMID:37656279 NCBI chr23:34,375,691...34,388,317
Ensembl chr23:34,376,228...34,388,263 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      hematopoietic system disease 3188
        blood coagulation disease 919
          hemorrhagic disease 874
            blood platelet disease 349
              Bernard-Soulier syndrome + 4
              Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 0
              Familial Platelet Disorder with Associated Myeloid Malignancy 10
              Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 1
              Glanzmann's thrombasthenia + 4
              MYH-9 related disease + 2
              Platelet Aggregation, Spontaneous 0
              Platelet Factor 3 Deficiency 0
              Platelet Prostacyclin Receptor Defect 0
              Platelet Receptor for Collagen, Deficiency of 0
              Platelet Signal Processing Defect 0
              Platelet-Type Bleeding Disorder 13 2
              Platelet-Type Bleeding Disorder 21 1
              Platelet-Type Bleeding Disorder 22 1
              Platelet-Type Bleeding Disorder 24 1
              Platelet-Type Bleeding Disorder 25 1
              Primary Release Disorder Of Platelets 0
              Quebec platelet disorder 1
              Stormorken syndrome 3
              Undefined Platelet Disorder 0
              White Platelet Syndrome 0
              X-linked dyserythropoietic anemia 1
              gray platelet syndrome + 3
              immunodeficiency 71 1
              platelet storage pool deficiency + 38
              platelet-type bleeding disorder 10 2
              platelet-type bleeding disorder 11 1
              platelet-type bleeding disorder 12 0
              platelet-type bleeding disorder 14 1
              platelet-type bleeding disorder 15 2
              platelet-type bleeding disorder 18 1
              platelet-type bleeding disorder 19 0
              platelet-type bleeding disorder 20 1
              platelet-type bleeding disorder 8 2
              platelet-type bleeding disorder 9 2
              qualitative platelet defect 0
              thrombocytopenia + 270
              thrombocytosis + 34
              von Willebrand's disease + 8
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      Hemic and Lymphatic Diseases 3680
        hematopoietic system disease 3188
          blood coagulation disease 919
            hemorrhagic disease 874
              blood platelet disease 349
                Bernard-Soulier syndrome + 4
                Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 0
                Familial Platelet Disorder with Associated Myeloid Malignancy 10
                Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 1
                Glanzmann's thrombasthenia + 4
                MYH-9 related disease + 2
                Platelet Aggregation, Spontaneous 0
                Platelet Factor 3 Deficiency 0
                Platelet Prostacyclin Receptor Defect 0
                Platelet Receptor for Collagen, Deficiency of 0
                Platelet Signal Processing Defect 0
                Platelet-Type Bleeding Disorder 13 2
                Platelet-Type Bleeding Disorder 21 1
                Platelet-Type Bleeding Disorder 22 1
                Platelet-Type Bleeding Disorder 24 1
                Platelet-Type Bleeding Disorder 25 1
                Primary Release Disorder Of Platelets 0
                Quebec platelet disorder 1
                Stormorken syndrome 3
                Undefined Platelet Disorder 0
                White Platelet Syndrome 0
                X-linked dyserythropoietic anemia 1
                gray platelet syndrome + 3
                immunodeficiency 71 1
                platelet storage pool deficiency + 38
                platelet-type bleeding disorder 10 2
                platelet-type bleeding disorder 11 1
                platelet-type bleeding disorder 12 0
                platelet-type bleeding disorder 14 1
                platelet-type bleeding disorder 15 2
                platelet-type bleeding disorder 18 1
                platelet-type bleeding disorder 19 0
                platelet-type bleeding disorder 20 1
                platelet-type bleeding disorder 8 2
                platelet-type bleeding disorder 9 2
                qualitative platelet defect 0
                thrombocytopenia + 270
                thrombocytosis + 34
                von Willebrand's disease + 8
paths to the root